Alexa meets an Orthopedic Surgeon

Wednesday, June 16 2010
Well, we have waited and waited for this - Alexa to finally go see a Pediatric Orthopedic Surgeon. I knew everyone would want to hear how it went - especially our wonderful anxious family, so I figured I'd get on here asap. 

I should preface this by saying that I have been doing weeks of ongoing research leading up to this meeting. So meeting with him today, ultimately wasn't a *whole* lot of new information to me.. But a funny thing happens when you go to the doctor... It becomes real. So I brought Alexa over to her fabulous daycare, Dave went to work, and I cried. Now I can take a breath and write again. And once again - there will be a lot here, in order to really update everyone thoroughly.

THE SPECIFICS:

The doctor we saw today was Dr. Cunningham, from Long Beach Miller Children's Hospital. After seeing her xrays/MRI and her - he showed us on the images, what we were looking at: She has several sets of ribs that are fused together on left side, next to the hemi-vertebrae. (see right pict below) Her hemi-vertebrae (in the top thoracic area T2-T6), is causing a curve (of about 40 degrees right now). But there is an area that is in the middle of her spine that is compensating, and curving the other way (to about 30 degrees). The good part is that it is essentially balancing her out, causing her to not be too lopsided in one direction. The bad part is that - well, she has a secondary curve. Plus, on both curves, the vertebrae are fusing together - called a "unilateral bar", on opposite sides of the spine (see left pict below). There is no way to separate those fusions, and this will inevitably cause her torso to be shorter than normal - and possibly affect the space for her lungs.

As far as what to do next - well, we wait to see how things progress. He wants to do another xray in 3 months and see her again. As I mentioned in a previous post, the last option that is typically done on children is any kind of fusion surgery, because they are still growing. Fusion essentially stops the spine from growing in that area, which can cause many issues for the lungs, thorax, chest area. The latest in technology is implanting growing rods or VEPTR that are attached to the spine and ribs. Dr. Cunningham has done some work with spine growing rods, but if it involves the newer VEPTR - an expanding rib rod, he said he would most likely refer us to a doctor up at CHLA - Children's Hospital of Los Angeles. I asked if it was Dr. Skaggs - and he said "yes, actually". Stragely enough, we have an appt with him in 2 weeks.

About a week ago, I joined a yahoo group for families of children with congenital scoliosis. I am so glad that I didn't listen to everyone who told me off the internet! If I didn't read through all the scary stuff, I never would have found it. It is filled with the most informative, knowledgable people that I ever could have come across. I have gotten more answers there than I would if I had scanned the internet for the next 6 months. And they understand - they are 'there' too. So with this, not only did I receive an email from someone here in So. Cal who recommended Dr. Skaggs at CHLA, but I got a whole lot of great answers for the following - that I thought I would share (for family members who are wondering the same things as I was):

WHY WAIT TO DO SURGERY?

"Waiting gives the spine the best chance to grow. Surgery on the spine stunts growth in the area of the operation. You risk that the bone in the area is going to fuse at least a little bit even if it’s not a “fusion” surgery. It’s best to let the kids grow taller to maximize future lung space potential. At the point of surgery a doctor can often “fix” the spine to the same degree whether or not it’s done sooner or later. But it’s a fine line that has to be judged separately for each child because if the lungs are already getting restricted they may not grow to fill the all the available space provided after a surgery. I believe that when watching a child, most doctors are trying to hit the time that allows maximum growth with out jeopardizing lung or other organ function The other reason for waiting is that smaller children are riskier to work on just because they are smaller and harder for the doctor to see what’s going on. A baby’s bone isn’t even solid yet and will not show up as well on an x-ray. Even at age 2, the bone is more like looking at cartilage then calcified solid bone. Also for some surgeries it start a cycle of having to go in for hardware expansions every 6 months."

WHAT ABOUT A BRACE? 
"In general a brace is only used in congenital scoliosis if a doctor thinks it will help keep a child straighter and have more lung space while waiting for them to grow as much as possible before surgery. Or a brace is used after surgery if support is needed while weighting for bone to fuse solid much as a cast is used while weighting for a broken leg to heal. With our congenital kids, the curves tend to be not as flexible and no amount of bracing is going to correct the deformaties that were there when the spine formed." 

SPINE GROWTH RODS vs. VEPTR (Vertical Expanding Prosthtic Titanium Rib)

"VEPTR started as a treatment for fused ribs, but was discovered to also help some kinds of scoliosis. Now it is used frequently for scoliosis. Most kids probably do not get growth rods and veptr, but some kids do get different combinations and placements of rods and bars depending on what’s needed for them. If a doctor thinks more then one rod or bar is necessary they can be placed at the same time. Occasionally a child will get one surgery and then years later a different surgery is deemed necessary. So anything can happen, but you will probably have lots of time to watch and think about your choices before you need to act." 

SOMETHING ELSE...

So..... in addition to all of the information regarding congenital scoliosis, I also was told by many in this group to look at all of the parts of the equation... to take a look at everything going on with Alexa as a whole. Her single kidney, the fused ribs, the scoliosis, the ear tag on the back of her ear, the extra digit she was born with that was tied off at birth, and the delayed eye development. It turns out that many children in this group fit into something called VACTERL Association. I have marked below, those that apply to Alexa.

VACTERL Association
VACTERL (Called Vaters) is not a syndrome, or disease. It is an acronym for Vertebral, Anal, Cardiac, Tracheal, Esophageal, Renal, and Limb.  VACTERL Association is basically a group of nonrandom physical birth defects that occur together and whose cause is not known at this time. There is no known gene or set of genes that causes it, and its occurrence is probably due to a combination of factors.  VACTERL Association applies to a child when there are at least three anomalies that fit into the following spectrum and genetic testing has ruled out other genetic diseases or syndromes.  While some children are born with the full spectrum of congenital malformations, this is quite rare. There are many different health issues one may face with a child who has VACTERL association.  Apart from the defects themselves, children often have problems with growth and weight gain and may have multiple infections.  While some have delayed development in the beginning due to many hospitalizations and illnesses, the majority of these children have normal intelligence.  

•  Vertebral Anomalies (yes)
  About seventy percent of children will be born with anomalies of their vertebral column.
  Most are benign, but they can contribute to other problems.  Some vertebral issues that
  are common are hemivertebrae (half formed vertebrae), butterfly shaped vertebrae, fused
  vertebrae, missing vertebrae, tethered spinal cord, Chiari Malformation and scoliosis. For
  most children these anomalies cause few issues early in life, but scoliosis may become
  more significant later on. 
   
• Anal Anomalies (no)
  Another rarely talked about but profoundly important issue for children with VACTERL is imperforate anus. This defect is very serious and must be taken care of in the early days of life. Depending on the type, correction may involve minimal surgery or full reconstruction through multiple surgeries.
   
• Cardiac Anomalies (will be tested - but not as of yet)
  Cardiac issues are also common in VACTERL, and about seventy-five percent of
  VACTERL children are born with some type of cardiac condition. The spectrum can be
  endless but the more common defects are atrial septal defects, ventricular septal defects,
  or Tetralogy of Fallot.  All children found to have VACTERL defects should be checked
  for cardiac problems regardless of whether a murmur is heard or not.  
   
• Tracheo-Esophageal Anomalies (not as of yet)
  The T and E defects of VACTERL usually occur in tandem, typically in the form of a
  Tracheal Esophageal Fistula and Esophageal Atresia, though other defects of the trachea
  or esophagus may be present.  Esophageal atresia occurs when the stomach and
  esophagus do not connect with each other, while a fistula is an opening between the
  trachea and esophagus that should not be there.  Children born with these defects
  typically require surgical repair of the trachea and esophagus, and can have serious
  ongoing gastric reflux disease that may require fundoplication surgery or a feeding tube.
  Some children also have significant respiratory issues, including tracheomalacia (a floppy
  trachea). Around seventy percent of children born with VACTERL will have these birth
  defects.
   
• Renal Anomalies (yes)
  Renal issues are also commonly found in children with VACTERL.  Approximately fifty
  percent of children are affected, and one can find a large spectrum of kidney and
  urological problems.  These defects can be severe, such as incomplete formation of one
  or both kidneys or obstruction of outflow of the urine, or more minor, like kidney reflux
  (backflow of urine).  If these defects are corrected early in life, kidney failure may be
  prevented.  
   
• Limb Anomalies (yes)
  Limb issues vary widely, but affect about seventy percent of children. Some children
  have extra fingers or toes, fused digits, missing digits, clubbed feet or hands, or forearm
  abnormalities.   

So in a nutshell - those children who show signs of VECTERL need to make sure they are seeing specialists to properly look at the other signs that may not be as apparent. I have talked about this with Alexa's pediatrician, and although she is not seeing signs of anything further, she is familiar with Vaters and she agrees that it wouldn't be a bad idea to have a few more tests done. 

MOVING FORWARD

Our immediate future means several more tests. The first and foremost is the appt with a Geneticist. We will also check her heart. The Drs that we will see on a regular basis are a Pulmonologist, to check her lungs as well as a Urologist to keep her kidney in good condition, and of course, the Orthopedic Surgeon. Although there wasn't any kind of shocking news from today's appt, I am trying to accept the fact that my little girl is going to have medical issues from here on out - and the hospital may very well become a second home to her. The best I can do right now is to keep doing all the research and tell her how much I love her.

til next time -

xoxo

Chris